Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

BMC Neurology

Volumn 14, Issue 1, 2014, Pages

  Stehlíková, Kristýna ^a,b   Skálová, Daniela ^a,b   Zídková, Jana ^a,b   Mrázová, Lenka ^a   VondráČek, Petr ^a   Mazanec, Radim ^c   Voháňka, Stanislav ^a   Haberlová, Jana ^c   Hermanová, Markéta ^d   ZámeČník, Josef ^c   SouČek, Ondřej ^a   Ošlejšková, Hana ^a   DvořáČková, Nina ^e   Solařová, Pavla ^f   Fajkusová, Lenka ^a,b  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d ST ANNE S UNIVERSITY HOSPITAL   (Czech Republic)

^e UNIVERSITY HOSPITAL OSTRAVA   (Czech Republic)

^f UNIVERSITY HOSPITAL HRADEC KRALOVE   (Czech Republic)

Author keywords

Calpain 3; CAPN3; LGMD2; Limb girdle muscular dystrophy; Sequence capture

Indexed keywords

ALPHA SARCOGLYCAN; ANOCTAMIN 5; BETA SARCOGLYCAN; CALPAIN 3; DYSFERLIN; FUKUTIN RELATED PROTEIN; GENOMIC DNA; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; ANO5 PROTEIN, HUMAN; CALPAIN; CAPN3 PROTEIN, HUMAN; CHLORIDE CHANNEL; FKRP PROTEIN, HUMAN; MUSCLE PROTEIN; PROTEIN; SARCOGLYCAN; SGCA PROTEIN, HUMAN;

ALLELE; ANO5 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAPN3 GENE; COHORT ANALYSIS; CZECH REPUBLIC; DNA EXTRACTION; DYSF GENE; EUROPEAN; FKRP GENE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MUSCLE TISSUE; MUTATIONAL ANALYSIS; PATHOGENESIS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SEQUENCE CAPTURE AND TARGETED RESEQUENCING; SGCA GENE; SGCB GENE; GENETICS; GENOTYPE; NUCLEOTIDE SEQUENCE;

CALPAIN; CHLORIDE CHANNELS; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; POLYMERASE CHAIN REACTION; PROTEINS; SARCOGLYCANS;

EID: 84921649175     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/s12883-014-0154-7     Document Type: Article

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